Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517979 | SCV000612707 | uncertain significance | not specified | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000916016 | SCV001061245 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000916016 | SCV001747114 | likely benign | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905294 | SCV004723059 | likely benign | CCDC88C-related condition | 2020-10-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |